{"id":"https://openalex.org/W3017021858","doi":"https://doi.org/10.1093/bioinformatics/btaa259","title":"LeafCutterMD: an algorithm for outlier splicing detection in rare diseases","display_name":"LeafCutterMD: an algorithm for outlier splicing detection in rare diseases","publication_year":2020,"publication_date":"2020-04-15","ids":{"openalex":"https://openalex.org/W3017021858","doi":"https://doi.org/10.1093/bioinformatics/btaa259","mag":"3017021858","pmid":"https://pubmed.ncbi.nlm.nih.gov/32315392"},"language":"en","primary_location":{"id":"doi:10.1093/bioinformatics/btaa259","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btaa259","pdf_url":"https://watermark.silverchair.com/btaa259.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAsIwggK-BgkqhkiG9w0BBwagggKvMIICqwIBADCCAqQGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMUmnXih91KpnM9_ASAgEQgIICdV5TNAGZkGfjy7FpJw1rrIj4t37BnVvDGKXGmx771ZMIGzQ2sSVLQWTNhsQdnIq9XNUrurot4LsND1D-C6trnPwVfkmg13p1YF1q6KQEhlVgoxQLiDhaEySMaGhg5upgAYw0jx1fV7hB5iAZG7fvKVbjHVtJOz77UgWePNvjMKkj9SG-QH0w_4vgq8_QxzThcvLsdE6mzXRe1Kgabosc679D0hkn9QVexwnXYvupufRPOfAeM_vcNUcJ2Mw5YQV0YPFW4mUeFP5voRAHvmK3kYW1_j3o8kCMVQf3SxqOBxjcHcm3wxPoe2MjwoyuSXnoJ8hjjGFjS0Sr0zFyhDHKv6kqq7KR0mtGC65FkekyLFJnv5SdnLapR1bYl0Qxc1oCZXX79jdgYhil31XoOau8TxlUuubxEp5AKbkWSRCfLws3oxwo5jfWsOLqxSCWZthdb9I3Q_XlBcA63gITrv6RhEP53HDeBwwloFCD5JSzv6tUWZJBROC__0BYY3jU6ajfuNr-57OPuO5yz3rRE_34NOf7D_gDf49kkogq-Mz9HQTcSEriQNbfsB7GOXGwNqD0GbEqRgkNTM0_N7Q3OyWehZSpmoRhuoFhEVcpy36mNCRNtodxrZ2vDvIMHbRdxAQRVIblBBLzldJC_Bo_gkd4bu7_lwBXEURHnSnbWUfv2zzKmC6L0duIz2ZkCPoPG0Lw1FVWbfUhhD1uWxlxCLx6hCSjIxik-9YmPP89nIpeowQEbDvzE5ZExqZtWWf1yU_FzATUNGOm9XbBL0FN-Nz0QsM2takIEH-vfc-sT6AXkVnWIs1fq8LjZ-lbPwSSqKVt8gWAwwHM","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://watermark.silverchair.com/btaa259.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAsIwggK-BgkqhkiG9w0BBwagggKvMIICqwIBADCCAqQGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMUmnXih91KpnM9_ASAgEQgIICdV5TNAGZkGfjy7FpJw1rrIj4t37BnVvDGKXGmx771ZMIGzQ2sSVLQWTNhsQdnIq9XNUrurot4LsND1D-C6trnPwVfkmg13p1YF1q6KQEhlVgoxQLiDhaEySMaGhg5upgAYw0jx1fV7hB5iAZG7fvKVbjHVtJOz77UgWePNvjMKkj9SG-QH0w_4vgq8_QxzThcvLsdE6mzXRe1Kgabosc679D0hkn9QVexwnXYvupufRPOfAeM_vcNUcJ2Mw5YQV0YPFW4mUeFP5voRAHvmK3kYW1_j3o8kCMVQf3SxqOBxjcHcm3wxPoe2MjwoyuSXnoJ8hjjGFjS0Sr0zFyhDHKv6kqq7KR0mtGC65FkekyLFJnv5SdnLapR1bYl0Qxc1oCZXX79jdgYhil31XoOau8TxlUuubxEp5AKbkWSRCfLws3oxwo5jfWsOLqxSCWZthdb9I3Q_XlBcA63gITrv6RhEP53HDeBwwloFCD5JSzv6tUWZJBROC__0BYY3jU6ajfuNr-57OPuO5yz3rRE_34NOf7D_gDf49kkogq-Mz9HQTcSEriQNbfsB7GOXGwNqD0GbEqRgkNTM0_N7Q3OyWehZSpmoRhuoFhEVcpy36mNCRNtodxrZ2vDvIMHbRdxAQRVIblBBLzldJC_Bo_gkd4bu7_lwBXEURHnSnbWUfv2zzKmC6L0duIz2ZkCPoPG0Lw1FVWbfUhhD1uWxlxCLx6hCSjIxik-9YmPP89nIpeowQEbDvzE5ZExqZtWWf1yU_FzATUNGOm9XbBL0FN-Nz0QsM2takIEH-vfc-sT6AXkVnWIs1fq8LjZ-lbPwSSqKVt8gWAwwHM","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5039319315","display_name":"Garrett Jenkinson","orcid":"https://orcid.org/0000-0003-2548-098X"},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"funder","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Garrett Jenkinson","raw_affiliation_strings":["Center for Individualized Medicine , Mayo Clinic, Rochester, MN 55902, USA","Department of Health Sciences Research , Mayo Clinic, Rochester, MN 55902, USA"],"affiliations":[{"raw_affiliation_string":"Center for Individualized Medicine , Mayo Clinic, Rochester, MN 55902, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Health Sciences Research , Mayo Clinic, Rochester, MN 55902, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100421418","display_name":"Yang Li","orcid":"https://orcid.org/0000-0002-0736-251X"},"institutions":[{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yang I Li","raw_affiliation_strings":["Department of Human Genetics, University of Chicago , Chicago, IL 60637, USA","Section of Genetic Medicine, Department of Medicine , Chicago, IL 60637, USA"],"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Chicago , Chicago, IL 60637, USA","institution_ids":["https://openalex.org/I40347166"]},{"raw_affiliation_string":"Section of Genetic Medicine, Department of Medicine , Chicago, IL 60637, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020528376","display_name":"Shubham Basu","orcid":"https://orcid.org/0000-0002-4509-9046"},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"funder","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Shubham Basu","raw_affiliation_strings":["Center for Individualized Medicine , Mayo Clinic, Rochester, MN 55902, USA","Department of Health Sciences Research , Mayo Clinic, Rochester, MN 55902, USA"],"affiliations":[{"raw_affiliation_string":"Center for Individualized Medicine , Mayo Clinic, Rochester, MN 55902, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Health Sciences Research , Mayo Clinic, Rochester, MN 55902, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056815195","display_name":"Margot A. Cousin","orcid":"https://orcid.org/0000-0002-6119-9346"},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"funder","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Margot A Cousin","raw_affiliation_strings":["Center for Individualized Medicine , Mayo Clinic, Rochester, MN 55902, USA","Department of Health Sciences Research , Mayo Clinic, Rochester, MN 55902, USA"],"affiliations":[{"raw_affiliation_string":"Center for Individualized Medicine , Mayo Clinic, Rochester, MN 55902, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Health Sciences Research , Mayo Clinic, Rochester, MN 55902, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012462973","display_name":"Gavin R. Oliver","orcid":"https://orcid.org/0000-0002-9948-3799"},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"funder","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Gavin R Oliver","raw_affiliation_strings":["Center for Individualized Medicine , Mayo Clinic, Rochester, MN 55902, USA","Department of Health Sciences Research , Mayo Clinic, Rochester, MN 55902, USA"],"affiliations":[{"raw_affiliation_string":"Center for Individualized Medicine , Mayo Clinic, Rochester, MN 55902, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Health Sciences Research , Mayo Clinic, Rochester, MN 55902, USA","institution_ids":["https://openalex.org/I4210146710"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5044058635","display_name":"Eric W. Klee","orcid":"https://orcid.org/0000-0003-2946-5795"},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"funder","lineage":["https://openalex.org/I1330342723"]},{"id":"https://openalex.org/I4210146710","display_name":"Mayo Clinic in Florida","ror":"https://ror.org/03zzw1w08","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Eric W Klee","raw_affiliation_strings":["Center for Individualized Medicine , Mayo Clinic, Rochester, MN 55902, USA","Department of Health Sciences Research , Mayo Clinic, Rochester, MN 55902, USA"],"affiliations":[{"raw_affiliation_string":"Center for Individualized Medicine , Mayo Clinic, Rochester, MN 55902, USA","institution_ids":["https://openalex.org/I1330342723"]},{"raw_affiliation_string":"Department of Health Sciences Research , Mayo Clinic, Rochester, MN 55902, USA","institution_ids":["https://openalex.org/I4210146710"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5012462973","https://openalex.org/A5044058635"],"corresponding_institution_ids":["https://openalex.org/I1330342723","https://openalex.org/I4210146710"],"apc_list":{"value":3618,"currency":"USD","value_usd":3618},"apc_paid":{"value":3618,"currency":"USD","value_usd":3618},"fwci":7.0315,"has_fulltext":false,"cited_by_count":76,"citation_normalized_percentile":{"value":0.97394354,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":94,"max":100},"biblio":{"volume":"36","issue":"17","first_page":"4609","last_page":"4615"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9987999796867371,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9987999796867371,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10521","display_name":"RNA and protein synthesis mechanisms","score":0.9987000226974487,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10604","display_name":"RNA Research and Splicing","score":0.9945999979972839,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/rna-splicing","display_name":"RNA splicing","score":0.6017999053001404},{"id":"https://openalex.org/keywords/context","display_name":"Context (archaeology)","score":0.4825589060783386},{"id":"https://openalex.org/keywords/mendelian-inheritance","display_name":"Mendelian inheritance","score":0.4709782600402832},{"id":"https://openalex.org/keywords/computer-science","display_name":"Computer science","score":0.4496191740036011},{"id":"https://openalex.org/keywords/exome","display_name":"Exome","score":0.44299015402793884},{"id":"https://openalex.org/keywords/computational-biology","display_name":"Computational biology","score":0.420634925365448},{"id":"https://openalex.org/keywords/exome-sequencing","display_name":"Exome sequencing","score":0.41276824474334717},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.346710205078125},{"id":"https://openalex.org/keywords/bioinformatics","display_name":"Bioinformatics","score":0.33587098121643066},{"id":"https://openalex.org/keywords/data-mining","display_name":"Data mining","score":0.3351183533668518},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.25768446922302246},{"id":"https://openalex.org/keywords/gene","display_name":"Gene","score":0.25689882040023804},{"id":"https://openalex.org/keywords/rna","display_name":"RNA","score":0.1863577961921692},{"id":"https://openalex.org/keywords/mutation","display_name":"Mutation","score":0.15747791528701782}],"concepts":[{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.6017999053001404},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.4825589060783386},{"id":"https://openalex.org/C175783326","wikidata":"https://www.wikidata.org/wiki/Q185055","display_name":"Mendelian inheritance","level":3,"score":0.4709782600402832},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.4496191740036011},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.44299015402793884},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.420634925365448},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.41276824474334717},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.346710205078125},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.33587098121643066},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.3351183533668518},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.25768446922302246},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.25689882040023804},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.1863577961921692},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.15747791528701782},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000465","descriptor_name":"Algorithms","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012326","descriptor_name":"RNA Splicing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016678","descriptor_name":"Genome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017423","descriptor_name":"Sequence Analysis, RNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017423","descriptor_name":"Sequence Analysis, RNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017423","descriptor_name":"Sequence Analysis, RNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1093/bioinformatics/btaa259","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btaa259","pdf_url":"https://watermark.silverchair.com/btaa259.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAsIwggK-BgkqhkiG9w0BBwagggKvMIICqwIBADCCAqQGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMUmnXih91KpnM9_ASAgEQgIICdV5TNAGZkGfjy7FpJw1rrIj4t37BnVvDGKXGmx771ZMIGzQ2sSVLQWTNhsQdnIq9XNUrurot4LsND1D-C6trnPwVfkmg13p1YF1q6KQEhlVgoxQLiDhaEySMaGhg5upgAYw0jx1fV7hB5iAZG7fvKVbjHVtJOz77UgWePNvjMKkj9SG-QH0w_4vgq8_QxzThcvLsdE6mzXRe1Kgabosc679D0hkn9QVexwnXYvupufRPOfAeM_vcNUcJ2Mw5YQV0YPFW4mUeFP5voRAHvmK3kYW1_j3o8kCMVQf3SxqOBxjcHcm3wxPoe2MjwoyuSXnoJ8hjjGFjS0Sr0zFyhDHKv6kqq7KR0mtGC65FkekyLFJnv5SdnLapR1bYl0Qxc1oCZXX79jdgYhil31XoOau8TxlUuubxEp5AKbkWSRCfLws3oxwo5jfWsOLqxSCWZthdb9I3Q_XlBcA63gITrv6RhEP53HDeBwwloFCD5JSzv6tUWZJBROC__0BYY3jU6ajfuNr-57OPuO5yz3rRE_34NOf7D_gDf49kkogq-Mz9HQTcSEriQNbfsB7GOXGwNqD0GbEqRgkNTM0_N7Q3OyWehZSpmoRhuoFhEVcpy36mNCRNtodxrZ2vDvIMHbRdxAQRVIblBBLzldJC_Bo_gkd4bu7_lwBXEURHnSnbWUfv2zzKmC6L0duIz2ZkCPoPG0Lw1FVWbfUhhD1uWxlxCLx6hCSjIxik-9YmPP89nIpeowQEbDvzE5ZExqZtWWf1yU_FzATUNGOm9XbBL0FN-Nz0QsM2takIEH-vfc-sT6AXkVnWIs1fq8LjZ-lbPwSSqKVt8gWAwwHM","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},{"id":"pmid:32315392","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/32315392","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics (Oxford, England)","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:7750945","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7750945","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Bioinformatics","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1093/bioinformatics/btaa259","is_oa":true,"landing_page_url":"https://doi.org/10.1093/bioinformatics/btaa259","pdf_url":"https://watermark.silverchair.com/btaa259.pdf?token=AQECAHi208BE49Ooan9kkhW_Ercy7Dm3ZL_9Cf3qfKAc485ysgAAAsIwggK-BgkqhkiG9w0BBwagggKvMIICqwIBADCCAqQGCSqGSIb3DQEHATAeBglghkgBZQMEAS4wEQQMUmnXih91KpnM9_ASAgEQgIICdV5TNAGZkGfjy7FpJw1rrIj4t37BnVvDGKXGmx771ZMIGzQ2sSVLQWTNhsQdnIq9XNUrurot4LsND1D-C6trnPwVfkmg13p1YF1q6KQEhlVgoxQLiDhaEySMaGhg5upgAYw0jx1fV7hB5iAZG7fvKVbjHVtJOz77UgWePNvjMKkj9SG-QH0w_4vgq8_QxzThcvLsdE6mzXRe1Kgabosc679D0hkn9QVexwnXYvupufRPOfAeM_vcNUcJ2Mw5YQV0YPFW4mUeFP5voRAHvmK3kYW1_j3o8kCMVQf3SxqOBxjcHcm3wxPoe2MjwoyuSXnoJ8hjjGFjS0Sr0zFyhDHKv6kqq7KR0mtGC65FkekyLFJnv5SdnLapR1bYl0Qxc1oCZXX79jdgYhil31XoOau8TxlUuubxEp5AKbkWSRCfLws3oxwo5jfWsOLqxSCWZthdb9I3Q_XlBcA63gITrv6RhEP53HDeBwwloFCD5JSzv6tUWZJBROC__0BYY3jU6ajfuNr-57OPuO5yz3rRE_34NOf7D_gDf49kkogq-Mz9HQTcSEriQNbfsB7GOXGwNqD0GbEqRgkNTM0_N7Q3OyWehZSpmoRhuoFhEVcpy36mNCRNtodxrZ2vDvIMHbRdxAQRVIblBBLzldJC_Bo_gkd4bu7_lwBXEURHnSnbWUfv2zzKmC6L0duIz2ZkCPoPG0Lw1FVWbfUhhD1uWxlxCLx6hCSjIxik-9YmPP89nIpeowQEbDvzE5ZExqZtWWf1yU_FzATUNGOm9XbBL0FN-Nz0QsM2takIEH-vfc-sT6AXkVnWIs1fq8LjZ-lbPwSSqKVt8gWAwwHM","source":{"id":"https://openalex.org/S52395412","display_name":"Bioinformatics","issn_l":"1367-4803","issn":["1367-4803","1367-4811"],"is_oa":false,"is_in_doaj":true,"is_core":true,"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Bioinformatics","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320333659","display_name":"Center for Individualized Medicine, Mayo Clinic","ror":null}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3017021858.pdf","grobid_xml":"https://content.openalex.org/works/W3017021858.grobid-xml"},"referenced_works_count":10,"referenced_works":["https://openalex.org/W2026505777","https://openalex.org/W2053801811","https://openalex.org/W2119818111","https://openalex.org/W2165800754","https://openalex.org/W2336359132","https://openalex.org/W2523361297","https://openalex.org/W2774883395","https://openalex.org/W2909194804","https://openalex.org/W2949444664","https://openalex.org/W2950545834"],"related_works":["https://openalex.org/W2093932542","https://openalex.org/W4402567428","https://openalex.org/W2043256480","https://openalex.org/W2172231381","https://openalex.org/W1983406990","https://openalex.org/W2106924416","https://openalex.org/W2772505697","https://openalex.org/W3083501552","https://openalex.org/W2172139908","https://openalex.org/W566554456"],"abstract_inverted_index":{"Supplementary":[0],"data":[1],"are":[2],"available":[3],"at":[4],"Bioinformatics":[5],"online.":[6]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":9},{"year":2024,"cited_by_count":23},{"year":2023,"cited_by_count":15},{"year":2022,"cited_by_count":16},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":2}],"updated_date":"2026-04-02T15:55:50.835912","created_date":"2025-10-10T00:00:00"}